Hereditary disease associated gene detection can be taken as an auxiliary method for diagnosis or treatment of clinically suspected patients to provide the basis for detection and diagnosis of genetic disease among high-risk population.  

Genetic detection for single gene inheritance disease

BGI Health mainly uses the target sequence capture high-throughput sequencing to conduct clinical genetic testing and carrier screening on single gene inheritance diseases that may cause serous harms to multiple body systems, including neuromuscular disease, hereditary arrhythmias, endocrine metabolic disease, ophthalmic genetic disease and other genetic diseases. This detection technology is comprehensive, accurate and of high-throughput. It can detect multiple types of mutation as well as many genes /samples simultaneously, solve those clicinal diseases that have relatively complex virulence genes or in need of differential diagnosis and provide basis for genetic counseling, prenatal diagnosis and targeted gene therapy. 

Exome gene detection

BGI Health can conduct re-sequencing of individual’s whole exome to obtain sequence map of exon area and analyze disease-related genes and drug response genes to find virulence genes and potential health problems, thus help the subject enjoy a scientific lifestyle so as to stay away from disease predisposing factors. Through follow-up interpretation, information update and health management services, the subject can enjoy all-round services from understanding of individual characteristics, prevention of disease to guidance of individualized medicine and get life-long benefits from those services .